Canonical Allele Identifier: CA394314649

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2151949
• ClinVar RCV Id: RCV003079033
• MyVariant Identifiers: chr16:g.2138308C>G (hg19) ; chr16:g.2088307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088307C>G , CM000678.2:g.2088307C>G	GRCh38
NC_000016.9:g.2138308C>G , CM000678.1:g.2138308C>G	GRCh37
NC_000016.8:g.2078309C>G	NCBI36
NG_005895.1:g.44002C>G , LRG_487:g.44002C>G
NG_008617.1:g.54914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3590C>G	ENSP00000455997.2:n.*3590C>G
ENST00000642206.2:c.5088C>G	ENSP00000495146.2:p.Ile1696Met
ENST00000642365.2:c.5238C>G	ENSP00000495459.2:p.Ile1746Met
ENST00000644417.2:c.*5754C>G	ENSP00000493912.2:n.*5754C>G
ENST00000646464.2:c.*7990C>G	ENSP00000496610.2:n.*7990C>G
ENST00000219476.9:c.5241C>G MANE Select	ENSP00000219476.3:p.Ile1747Met
ENST00000350773.9:c.5172C>G	ENSP00000344383.4:p.Ile1724Met
ENST00000401874.7:c.5040C>G	ENSP00000384468.2:p.Ile1680Met
ENST00000568454.6:c.5073C>G	ENSP00000454487.1:p.Ile1691Met
ENST00000569110.2:c.1464C>G
ENST00000569930.2:n.3123C>G
ENST00000642365.1:c.3895C>G
ENST00000642561.1:c.5100C>G	ENSP00000495099.1:p.Ile1700Met
ENST00000642791.1:n.838C>G
ENST00000642797.1:c.5043C>G	ENSP00000493846.1:p.Ile1681Met
ENST00000642936.1:c.5109C>G	ENSP00000494514.1:p.Ile1703Met
ENST00000643088.1:c.5034C>G	ENSP00000494747.1:p.Ile1678Met
ENST00000643426.1:n.2889C>G
ENST00000643946.1:c.5166C>G	ENSP00000495927.1:p.Ile1722Met
ENST00000644043.1:c.5112C>G	ENSP00000496262.1:p.Ile1704Met
ENST00000644329.1:c.5127C>G	ENSP00000496611.1:p.Ile1709Met
ENST00000644335.1:c.5037C>G	ENSP00000496317.1:p.Ile1679Met
ENST00000644399.1:c.5162C>G
ENST00000645024.1:n.3325C>G
ENST00000646388.1:c.5235C>G	ENSP00000495921.1:p.Ile1745Met
ENST00000646634.1:n.4056C>G
ENST00000646674.1:n.2493C>G
ENST00000647042.1:n.2464C>G
ENST00000647180.1:n.2354C>G
ENST00000219476.7:c.5241C>G	ENSP00000219476.3:p.Ile1747Met
ENST00000350773.8:c.5172C>G	ENSP00000344383.4:p.Ile1724Met
ENST00000382538.10:c.4896C>G	ENSP00000371978.6:p.Ile1632Met
ENST00000401874.6:c.5040C>G	ENSP00000384468.2:p.Ile1680Met
ENST00000439117.6:c.*4408C>G	ENSP00000406980.2:n.*4408C>G
ENST00000439673.6:c.4932C>G	ENSP00000399232.2:p.Ile1644Met
ENST00000497886.5:n.2964C>G
ENST00000568454.5:c.5073C>G	ENSP00000454487.1:p.Ile1691Met
ENST00000569110.1:c.1423C>G
ENST00000569930.1:n.2356C>G
NM_000548.3:c.5241C>G , LRG_487t1:c.5241C>G	NP_000539.2:p.Ile1747Met
NM_001077183.1:c.5040C>G	NP_001070651.1:p.Ile1680Met
NM_001114382.1:c.5172C>G	NP_001107854.1:p.Ile1724Met
XM_005255529.3:c.5112C>G	XP_005255586.2:p.Ile1704Met
XM_005255531.3:c.5043C>G	XP_005255588.2:p.Ile1681Met
XM_011522636.1:c.5295C>G	XP_011520938.1:p.Ile1765Met
XM_011522637.1:c.5292C>G	XP_011520939.1:p.Ile1764Met
XM_011522638.1:c.5184C>G	XP_011520940.1:p.Ile1728Met
XM_011522639.1:c.5166C>G	XP_011520941.1:p.Ile1722Met
XM_011522640.1:c.5163C>G	XP_011520942.1:p.Ile1721Met
XM_011522641.1:c.4932C>G	XP_011520943.1:p.Ile1644Met
NM_000548.4:c.5241C>G	NP_000539.2:p.Ile1747Met
NM_001077183.2:c.5040C>G	NP_001070651.1:p.Ile1680Met
NM_001114382.2:c.5172C>G	NP_001107854.1:p.Ile1724Met
NM_001318827.1:c.4932C>G	NP_001305756.1:p.Ile1644Met
NM_001318829.1:c.4896C>G	NP_001305758.1:p.Ile1632Met
NM_001318831.1:c.4509C>G	NP_001305760.1:p.Ile1503Met
NM_001318832.1:c.5073C>G	NP_001305761.1:p.Ile1691Met
NM_001363528.1:c.5043C>G	NP_001350457.1:p.Ile1681Met
NM_021055.2:c.5112C>G	NP_066399.2:p.Ile1704Met
XM_005255531.4:c.5043C>G	XP_005255588.2:p.Ile1681Met
XM_011522636.2:c.5295C>G	XP_011520938.1:p.Ile1765Met
XM_011522637.2:c.5292C>G	XP_011520939.1:p.Ile1764Met
XM_011522638.2:c.5457C>G	XP_011520940.2:p.Ile1819Met
XM_011522639.2:c.5166C>G	XP_011520941.1:p.Ile1722Met
XM_011522640.2:c.5163C>G	XP_011520942.1:p.Ile1721Met
XM_017023615.1:c.5238C>G	XP_016879104.1:p.Ile1746Met
XM_017023616.1:c.5109C>G	XP_016879105.1:p.Ile1703Met
XM_017023617.1:c.5205C>G	XP_016879106.1:p.Ile1735Met
XM_017023618.1:c.3951C>G	XP_016879107.1:p.Ile1317Met
XM_024450413.1:c.5127C>G	XP_024306181.1:p.Ile1709Met
NM_000548.5:c.5241C>G MANE Select	NP_000539.2:p.Ile1747Met
NM_001370404.1:c.5109C>G	NP_001357333.1:p.Ile1703Met
NM_001370405.1:c.5100C>G	NP_001357334.1:p.Ile1700Met
NM_001077183.3:c.5040C>G	NP_001070651.1:p.Ile1680Met
NM_001114382.3:c.5172C>G	NP_001107854.1:p.Ile1724Met
NM_001318827.2:c.4932C>G	NP_001305756.1:p.Ile1644Met
NM_001318829.2:c.4896C>G	NP_001305758.1:p.Ile1632Met
NM_001318831.2:c.4509C>G	NP_001305760.1:p.Ile1503Met
NM_001318832.2:c.5073C>G	NP_001305761.1:p.Ile1691Met
NM_001363528.2:c.5043C>G	NP_001350457.1:p.Ile1681Met
NM_021055.3:c.5112C>G	NP_066399.2:p.Ile1704Met